Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TERT: 2628C>G; His876Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

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Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.

Blood Advances

Niaz, Aram A; Truong, Jia J; Manoleras, Annabel A; Fox, Lucy C LC; Blombery, Piers P; Vasireddy, Raja S RS; Pickett, Hilda A HA; Curtin, Julie A JA; Barbaro, Pasquale M PM; Rodgers, Jonathan J; Roy, John J; Riley, Lisa G LG; Holien, Jessica K JK; Cohen, Scott B SB; Bryan, Tracy M TM

Publication Date: 2022-06-28

Variant appearance in text: TERT: His876Gln

PubMed Link: 35477117

Variant Present in the following documents:

• advancesADV2022007029-suppl1.pdf

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TERT: H876Q

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TERT: H876Q

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: TERT: 2628C>G; H876Q

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Medical genetics and epigenetics of telomerase.

Journal Of Cellular And Molecular Medicine

Koziel, Jillian E JE; Fox, Melanie J MJ; Steding, Catherine E CE; Sprouse, Alyssa A AA; Herbert, Brittney-Shea BS

Publication Date: 2011-03

Variant appearance in text: TERT: H876Q

PubMed Link: 21323862

Variant Present in the following documents:

• Main text
• jcmm0015-0457.pdf

View BVdb publication page

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TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Blood

Du, Hong-Yan HY; Pumbo, Elena E; Ivanovich, Jennifer J; An, Ping P; Maziarz, Richard T RT; Reiss, Ulrike M UM; Chirnomas, Deborah D; Shimamura, Akiko A; Vlachos, Adrianna A; Lipton, Jeffrey M JM; Goyal, Rakesh K RK; Goldman, Frederick F; Wilson, David B DB; Mason, Philip J PJ; Bessler, Monica M

Publication Date: 2009-01-08

Variant appearance in text: TERT: H876Q

PubMed Link: 18931339

Variant Present in the following documents:

• Main text

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Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.

Blood

Du, Hong-Yan HY; Pumbo, Elena E; Manley, Peter P; Field, Joshua J JJ; Bayliss, Susan J SJ; Wilson, David B DB; Mason, Philip J PJ; Bessler, Monica M

Publication Date: 2008-02-01

Variant appearance in text: TERT: H876Q

PubMed Link: 18042801

Variant Present in the following documents:

• Main text

View BVdb publication page

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